A5089422952- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Birth, Development, and Health
- Genetic diversity and population structure
- Child and Adolescent Psychosocial and Emotional Development
- Nutrition, Genetics, and Disease
- Genetic Syndromes and Imprinting
- Cognitive Abilities and Testing
- Health, Environment, Cognitive Aging
- SARS-CoV-2 and COVID-19 Research
- Intergenerational Family Dynamics and Caregiving
- Diet and metabolism studies
- Bioinformatics and Genomic Networks
- Chronic Disease Management Strategies
- Family Support in Illness
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Folate and B Vitamins Research
- Animal Behavior and Reproduction
- Paleopathology and ancient diseases
- COVID-19 Clinical Research Studies
- Liver Disease Diagnosis and Treatment
- Resilience and Mental Health
- Evolution and Genetic Dynamics
Institute of Genetics and Cancer
2016-2023
University of Edinburgh
2015-2023
Edinburgh Cancer Research
2022-2023
Centro de Investigación y Desarrollo
2023
Western General Hospital
2016-2020
Flinders University
2018-2019
University of Windsor
2018-2019
Medical Research Council
2016-2019
Universidade da Coruña
2012
Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria
2012
Pedigree-based analyses of intelligence have reported that genetic differences account for 50–80% the phenotypic variation. For personality traits these effects are smaller, with 34–48% variance being explained by differences. However, molecular studies using unrelated individuals typically report a heritability estimate around 30% and between 0 15% variables. estimates may differ because current genotyping platforms poor at tagging causal variants, variants low minor allele frequency, copy...
Educational attainment is associated with many health outcomes, including longevity. It also known to be substantially heritable. Here, we used data from three large genetic epidemiology cohort studies (Generation Scotland, n = ∼17,000; UK Biobank, ∼115,000; and the Estonian ∼6,000) test whether education-linked variants can predict lifespan length. We did so by using members' polygenic profile score for education their parents' Across cohorts, meta-analysis showed that a 1 SD higher was...
The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from approximately 24,000 adult volunteers across Scotland. Although collection was cross-sectional, GS:SFHS became prospective due to of the ability link routine Electronic Record (EHR) data. Over 20,000 participants were selected for genotyping using large genome-wide array. analysed association studies (GWAS)...
Genome-wide association studies have successfully identified thousands of loci for a range human complex traits and diseases. The proportion phenotypic variance explained by significant associations is, however, limited. Given the same dense SNP panels, mixed model analyses capture greater than single but total is generally still less genetic estimated from pedigree studies. Combining information relationships SNPs, we examined 16 anthropometric cardiometabolic in Scottish family-based...
The apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late onset Alzheimer's disease, whilst ε2 confers protection. Previous studies report differential DNA methylation of APOE between and carriers, but associations with epigenome-wide have not previously been characterised.Using EPIC array, we investigated differences in whole blood patterns disease-free (n = 2469) 1118) carriers from two largest single-cohort samples profiled to date. Using a discovery, replication...
The Generation Scotland Scottish Family Health Study (GS:SFHS) includes 23,960 participants from across with records for many health-related traits and environmental covariates. Genotypes at ~700 K SNPs are currently available 10,000 participants. cohort was designed as a resource genetic health related research the study of complex traits. In this we developed suite analyses to disentangle genomic differentiation within GS:SFHS individuals describe optimise sample methods future analyses....
Abstract Parent-of-origin effects (POE) exist when there is differential expression of alleles inherited from the two parents. A genome-wide scan for POE on DNA methylation at 639,238 CpGs in 5,101 individuals identifies 733 independent potentially influenced by a false discovery rate ≤ 0.05 which 331 had not previously been identified. Cis and trans quantitative trait loci (mQTL) regulate variation through 54% (399/733) identified POE-influenced CpGs. The combined results provide strong...
To efficiently transform genetic associations into drug targets requires evidence that a particular gene, and its encoded protein, contribute causally to disease. achieve this, we employ three-step proteome-by-phenome Mendelian Randomization (MR) approach. In step one, 154 protein quantitative trait loci (pQTLs) were identified independently replicated. From these pQTLs, 64 replicated locally-acting variants used as instrumental variables for MR across 846 traits (step two). When assumptions...
Stratification by genetic risk factors for Alzheimer's disease (AD) may help identify groups with the greatest risk. Biological changes that cause late-onset AD are likely to occur years, if not decades prior diagnosis. Here, we select a subset of Generation Scotland: Scottish Family Health Study cohort in preclinical age-range 60-70 years (subset n = 3,495 cognitive and data). We test differences polygenic scores AD. The constructed using all available SNPs, excluding those within 500 kb...
BackgroundBoth genetic and environmental factors contribute to risk of depression, but estimates their relative contributions are limited. Commonalities between clinically-assessed major depressive disorder (MDD) self-declared depression (SDD) also unclear.MethodsUsing data from a large Scottish family-based cohort (GS:SFHS, N = 19,994), we estimated the variance components for MDD SDD. The representing effect associated with genome-wide common variants (SNP heritability), additional...
Significance Modern genetic analysis has revealed differentiation across the south of Britain and Ireland. This structure demonstrates impact hegemonies migrations from histories How this compares to north Britain, Scotland, its surrounding Isles is less clear. We present genomic 2,544 British Irish, including previously unstudied Scottish, Shetlandic Manx individuals. demonstrate widespread Scotland that echoes past kingdoms, quantify considerable found on isles. Furthermore, we show extent...
Abstract Critically endangered breeds and populations are often crossed with more common or subspecies. This results in genetic admixture that can be undesirable when it challenges the integrity of wild domestic populations, causing a loss special characteristics unique material ultimately extinction. Here, we present two genomic selection strategies, using genome‐wide DNA markers, to recover content original population from admixtures. Each strategy relies on estimation proportion...
<ns4:p><ns4:bold>Background: </ns4:bold>Stressful life events (SLEs) and neuroticism are risk factors for major depressive disorder (MDD). However, SLEs heritable genetic is associated with MDD. We sought to investigate the environmental contributions in a family-based sample, quantify overlap MDD neuroticism.</ns4:p><ns4:p> <ns4:bold>Methods:</ns4:bold> A subset of Generation Scotland: Scottish Family Health Study (GS), consisting 9618 individuals information on MDD, past 6 month SLEs,...
Importance Self-reported trauma exposure has consistently been found to be a risk factor for major depressive disorder (MDD), and several studies have reported interactions with genetic liability. To date, most examined gene-environment using genome-wide variants (single-nucleotide variations [SNVs]) or polygenic scores, both typically capturing less than 3% of phenotypic variance. Objective reexamine genome-by-trauma interaction associations measures all available genotyped data thus,...
When introgression of undesired exogenous genetic material occurs in a population intended to remain pure, actions are necessary recover the original background. It has been shown that genome-wide information can replace pedigree for different objectives and is valuable tool fields conservation breeding. In this simulation study, molecular provided by 50 000 SNP was used minimise coancestry between individuals an admixed foreign originally introgressed native order remove DNA. This...
Using Drosophila melanogaster, we explore the consequences of restricted panmixia (RP) on genetic load caused by segregating deleterious recessive alleles in a population where females mate full sib with probability about (1/2) and randomly otherwise. We find that this breeding structure purges roughly half concealed heterozygous condition. Furthermore, fitness did not increase after was restored, implying that, during RP, excess expressed induced inbreeding had also been efficiently purged....
Regional differences in health-related phenotypes have been detected between and within countries. In Scotland, regions differ for a variety of traits display mean lifespan up to 7.5 years. Both genetics lifestyle are potential causes this variation. Using data on obesity-related ~11,000 Scottish individuals with genome-wide genetic information records socioeconomic factors, we explored regional variation by using models that incorporate environmental jointly. We found showed substantial...
The receiver tube of the parabolic trough collectors may suffer a degradation vacuum atmosphere between glass envelope and absorber due to permeation gases, mainly hydrogen or air. This is one most common issues heat loss increase in solar fields with this type collectors. Surface Temperature Method has been used determine complete partial annulus tubes, by measuring temperature envelope. In work, influences meteorological variables source distance on measurement infrared thermography are...
Introduction Dementia pathogenesis begins years before clinical symptom onset, necessitating the understanding of premorbid risk mechanisms. Here we investigated potential pathogenic mechanisms by assessing DNA methylation associations with dementia factors in Alzheimer's disease (AD)–free participants. Methods Associations between measures (family history, AD genetic score [GRS], and scores [combining lifestyle, demographic, factors]) whole-blood were assessed discovery replication samples...
<ns4:p><ns4:bold>Background: </ns4:bold>Stressful life events (SLEs) and neuroticism are risk factors for major depressive disorder (MDD). However, SLEs heritable genetic is correlated with MDD. We sought to investigate the environmental contributions in a family-based sample, quantify overlap MDD neuroticism.</ns4:p><ns4:p> <ns4:bold>Methods:</ns4:bold> A subset of Generation Scotland: Scottish Family Health Study (GS), consisting 9618 individuals information on MDD, past 6 month SLEs,...
Abstract Pedigree-based analyses of intelligence have reported that genetic differences account for 50-80% the phenotypic variation. For personality traits these effects are smaller, with 34-48% variance being explained by differences. However, molecular studies using unrelated individuals typically report a heritability estimate around 30% and between 0% 15% variables. estimates may differ because current genotyping platforms poor at tagging causal variants, variants low minor allele...
The environment and events that we are exposed to in utero, during birth early childhood influence our future physical mental health. underlying mechanisms lead these outcomes unclear, but long-term changes epigenetic marks, such as DNA methylation, could act a mediating factor or biomarker. methylation data were assayed at 713 522 CpG sites from 9537 participants of the Generation Scotland: Scottish Family Health Study, family-based cohort with extensive genetic, medical, family history...